Familial Aggregation of Hematologic Disorders and Association with Other Malignancies:
Search for Genetic and Genomic Linkages
Over the past 20 years, Wiernik and colleagues have been among the first to identify familial clusters of various hematologic malignancies (blood cancers) and to note the phenomenon of anticipation among these families. Anticipation describes the occurrence of a disease at an earlier age in each succeeding generation. This phenomenon is associated with genetic transmission rather than environmental exposure, and has been described in other diseases, particularly familial neurologic diseases.
Our research project, supported by the Cancer Research Foundation of NY, is seeking to determine if there are genetic markers in these families. Our initial goal has been to identify such families with multiple hematologic malignancies, and subsequently, we are collaborating with molecular genetics laboratories who will evaluate the family’s genome. Test samples have been greatly simplified and the work can be done using saliva!
An additional research project that has evolved from this is based on other observations from our families: a) an association of breast cancer and lymphoma in the same patient; b) an association of renal cell cancer and lymphoma in the same patient; and c) an increased association of hematologic malignancies in the families of patients with renal cell cancer (kidney cancer).
We are now re-analyzing our current families for other associations, and for the potential increased association of head and neck cancer and hematologic malignancies, as well as other adenocarcinomas.
We have over 700 families in our 20 year data base, but not all members are available for donation of specimens to analyze with modern techniques.
Therefore, we have reactivated our family collection protocol, approved by the Western Investigational Review Board (WIRB) (protocol # xxxx) and we are actively seeking additional families with multiple hematologic malignancies and associations of hematologic malignancies and carcinomas, particularly adenocarcinomas.
We are accepting families with self-referral, as well as referrals from genetic counselors. All responses will be confidential and families will not be identified when results of the studies are presented or discussed. Participation is voluntary and participants may withdraw at any time. Contact will be by email and telephone.
The process is the following:
- To discuss enrollment, contact Dr. Dona Wickramasinghe at firstname.lastname@example.org and ask for information. Provide a contact number if possible. Genetics counselors are requested to provide a family contact person.
- If the contact person agrees to participate, an oral consent will be obtained and recorded.
- The family member may discuss the research study and enrollment with the family, and then inform us if other members will participate. Please then provide contact information.
- Dona will then discuss the study, and obtain oral consent, from all participants.
- A screening questionnaire will be sent via email or regular mail along with requests for medical record release, to document diagnoses. Family contact information will also be requested to have a written record.
- We will obtain medical records from your medical facility (diagnosis and pathology in particular) once we have the signed medical release form. If you have copies, these can be faxed or scanned and emailed.
- We will construct a family tree (pedigree) and note members with documented diagnoses.
- We will review these pedigrees with our laboratory collaborators if you give us permission to do so.
- There is a separate protocol and separate consent to proceed with genetic analysis, and our collection of family data does not require agreement to the laboratory study.
- We will follow-up annually to assess any changes in the family history. You can of course notify us at any time if there are changes.